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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC5A2
(R130H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC5A2
(R139H)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GUncertain significance
SLC5A2
(I151L)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GUncertain significance
SLC5A2
(Q167fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC5A2, LOC130058907
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC5A2
(T323K)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
+2 more
GUncertain significance
SLC5A2
(R336H)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GUncertain significance
SLC5A2
(A344V)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GConflicting classifications of pathogenicity
SLC5A2
(R368W)
Single nucleotide variant
(missense variant +1 more)
Familial renal glucosuria
GLikely pathogenic
SLC5A2
(V385A)
Single nucleotide variant
(missense variant)
Familial renal glucosuria
GUncertain significance
SLC5A2
(E421K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC5A2
Single nucleotide variant
(splice donor variant)
Familial renal glucosuria
GLikely pathogenic
SLC5A2
(I456L)
Single nucleotide variant
(missense variant)
Familial renal glucosuria
GUncertain significance
SLC5A2
(L463P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC5A2
(P478L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SLC5A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
SLC5A2
(A549T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC5A2
Single nucleotide variant
(intron variant)
Familial renal glucosuria
+1 more
GBenign/Likely benign
RUSF1, SLC5A2
(E632A)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial renal glucosuria
GUncertain significance
RUSF1, SLC5A2
(M661T)
Single nucleotide variant
(3 prime UTR variant +2 more)
Familial renal glucosuria
GUncertain significance
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